Varaico: Literature-Extracted Genetic Variants

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432 papers

RefSeq Summary

This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the ty...

Pfam Domains

Exostosin_GT47aa 110–396UCSCExostosin GT47 domain

Glyco_transf_64aa 480–729UCSCGlycosyl transferase family 64 domain

Gene Aliases

HGNC Name

exostosin glycosyltransferase 1

HGNC Previous Symbols

LGCR; LGS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000127.3

p.W55C

c.165G>C

Surrounding Variants

1 paper

NM_000127.3

p.W55C

c.165G>T

1 paper

NM_000127.3

p.P56S

c.166C>T

2 papers

NM_000127.3

p.F58fs

c.172_173fs

1 paper

NM_000127.3

p.F58insFs

c.173_174insG

2 papers

NM_000127.3

p.F58delFs

c.173delA

5 papers

NM_000127.3

p.P59delFs

c.176delG

1 paper

NM_000127.3

p.S50R

c.150T>G

1 paper

NM_000127.3

p.S50R

c.150T>A

1 paper

NM_000127.3

p.D60delFs

c.180delG

1 paper

NM_000127.3

p.S50fs

c.148_149fs

1 paper

NM_000127.3

p.S50R

c.148A>C

1 paper

NM_000127.3

p.P49delFs

c.147delG